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Journal Abstract Search

196 related items for PubMed ID: 23526466

  • 1. Structural pituitary abnormalities associated with CHARGE syndrome.
    Gregory LC, Gevers EF, Baker J, Kasia T, Chong K, Josifova DJ, Caimari M, Bilan F, McCabe MJ, Dattani MT.
    J Clin Endocrinol Metab; 2013 Apr; 98(4):E737-43. PubMed ID: 23526466
    [Abstract] [Full Text] [Related]

  • 2. Heterozygous mutation of HESX1 causing hypopituitarism and multiple anatomical malformations without features of septo-optic dysplasia.
    Corneli G, Vivenza D, Prodam F, Di Dio G, Vottero A, Rapa A, Bellone S, Bernasconi S, Bona G.
    J Endocrinol Invest; 2008 Aug; 31(8):689-93. PubMed ID: 18852528
    [Abstract] [Full Text] [Related]

  • 3. HESX1 mutations are an uncommon cause of septooptic dysplasia and hypopituitarism.
    McNay DE, Turton JP, Kelberman D, Woods KS, Brauner R, Papadimitriou A, Keller E, Keller A, Haufs N, Krude H, Shalet SM, Dattani MT.
    J Clin Endocrinol Metab; 2007 Feb; 92(2):691-7. PubMed ID: 17148560
    [Abstract] [Full Text] [Related]

  • 4. Combined pituitary hormone deficiency harboring CHD7 gene missense mutation without CHARGE syndrome: a case report.
    Obata Y, Takayama K, Nishikubo H, Tobimatsu A, Matsuda I, Uehara Y, Maruo Y, Sho H, Kosugi M, Yasuda T.
    BMC Endocr Disord; 2023 May 25; 23(1):118. PubMed ID: 37231428
    [Abstract] [Full Text] [Related]

  • 5. CHD7 mutations and CHARGE syndrome in semicircular canal dysplasia.
    Green GE, Huq FS, Emery SB, Mukherji SK, Martin DM.
    Otol Neurotol; 2014 Sep 25; 35(8):1466-70. PubMed ID: 24979395
    [Abstract] [Full Text] [Related]

  • 6. The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients.
    Marcos S, Sarfati J, Leroy C, Fouveaut C, Parent P, Metz C, Wolczynski S, Gérard M, Bieth E, Kurtz F, Verier-Mine O, Perrin L, Archambeaud F, Cabrol S, Rodien P, Hove H, Prescott T, Lacombe D, Christin-Maitre S, Touraine P, Hieronimus S, Dewailly D, Young J, Pugeat M, Hardelin JP, Dodé C.
    J Clin Endocrinol Metab; 2014 Oct 25; 99(10):E2138-43. PubMed ID: 25077900
    [Abstract] [Full Text] [Related]

  • 7. Reproductive endocrine phenotypes relating to CHD7 mutations in humans.
    Balasubramanian R, Crowley WF.
    Am J Med Genet C Semin Med Genet; 2017 Dec 25; 175(4):507-515. PubMed ID: 29152903
    [Abstract] [Full Text] [Related]

  • 8. Septo-optic dysplasia.
    Ferran Kd, Paiva IA, Gilban DL, Resende M, Souza MA, Beserra IC, Guimarães MM.
    Arq Neuropsiquiatr; 2010 Jun 25; 68(3):400-5. PubMed ID: 20602044
    [Abstract] [Full Text] [Related]

  • 9. Sporadic heterozygous frameshift mutation of HESX1 causing pituitary and optic nerve hypoplasia and combined pituitary hormone deficiency in a Japanese patient.
    Tajima T, Hattorri T, Nakajima T, Okuhara K, Sato K, Abe S, Nakae J, Fujieda K.
    J Clin Endocrinol Metab; 2003 Jan 25; 88(1):45-50. PubMed ID: 12519827
    [Abstract] [Full Text] [Related]

  • 10. Evaluating CHARGE syndrome in congenital hypogonadotropic hypogonadism patients harboring CHD7 variants.
    Xu C, Cassatella D, van der Sloot AM, Quinton R, Hauschild M, De Geyter C, Flück C, Feller K, Bartholdi D, Nemeth A, Halperin I, Pekic Djurdjevic S, Maeder P, Papadakis G, Dwyer AA, Marino L, Favre L, Pignatelli D, Niederländer NJ, Acierno J, Pitteloud N.
    Genet Med; 2018 Aug 25; 20(8):872-881. PubMed ID: 29144511
    [Abstract] [Full Text] [Related]

  • 11. Hypopituitarism oddities: congenital causes.
    Kelberman D, Dattani MT.
    Horm Res; 2007 Aug 25; 68 Suppl 5():138-44. PubMed ID: 18174732
    [Abstract] [Full Text] [Related]

  • 12. HESX1 mutations in patients with congenital hypopituitarism: variable phenotypes with the same genotype.
    Fang Q, Benedetti AF, Ma Q, Gregory L, Li JZ, Dattani M, Sadeghi-Nejad A, Arnhold IJ, Mendonca BB, Camper SA, Carvalho LR.
    Clin Endocrinol (Oxf); 2016 Sep 25; 85(3):408-14. PubMed ID: 27000987
    [Abstract] [Full Text] [Related]

  • 13. Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency.
    Balasubramanian R, Choi JH, Francescatto L, Willer J, Horton ER, Asimacopoulos EP, Stankovic KM, Plummer L, Buck CL, Quinton R, Nebesio TD, Mericq V, Merino PM, Meyer BF, Monies D, Gusella JF, Al Tassan N, Katsanis N, Crowley WF.
    Proc Natl Acad Sci U S A; 2014 Dec 16; 111(50):17953-8. PubMed ID: 25472840
    [Abstract] [Full Text] [Related]

  • 14. The results of CHD7 analysis in clinically well-characterized patients with Kallmann syndrome.
    Bergman JE, de Ronde W, Jongmans MC, Wolffenbuttel BH, Drop SL, Hermus A, Bocca G, Hoefsloot LH, van Ravenswaaij-Arts CM.
    J Clin Endocrinol Metab; 2012 May 16; 97(5):E858-62. PubMed ID: 22399515
    [Abstract] [Full Text] [Related]

  • 15. Discovery of a novel CHD7 CHARGE syndrome variant by integrated omics analyses.
    Granadillo JL, Wegner DJ, Paul AJ, Willing M, Sisco K, Tedder ML, Sadikovic B, Wambach JA, Baldridge D, Cole FS, Undiagnosed Diseases Network.
    Am J Med Genet A; 2021 Feb 16; 185(2):544-548. PubMed ID: 33184947
    [Abstract] [Full Text] [Related]

  • 16. Congenital hypopituitarism: clinical, molecular and neuroradiological correlates.
    Mehta A, Hindmarsh PC, Mehta H, Turton JP, Russell-Eggitt I, Taylor D, Chong WK, Dattani MT.
    Clin Endocrinol (Oxf); 2009 Sep 16; 71(3):376-82. PubMed ID: 19320653
    [Abstract] [Full Text] [Related]

  • 17. Hypopituitarism and neurodevelopmental abnormalities in relation to central nervous system structural defects in children with optic nerve hypoplasia.
    Haddad NG, Eugster EA.
    J Pediatr Endocrinol Metab; 2005 Sep 16; 18(9):853-8. PubMed ID: 16279362
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  • 19. A novel homozygous HESX1 mutation causes panhypopituitarism without midline defects and optic nerve anomalies.
    Durmaz B, Cogulu O, Dizdarer C, Stobbe H, Pfaeffle R, Ozkinay F.
    J Pediatr Endocrinol Metab; 2011 Sep 16; 24(9-10):779-82. PubMed ID: 22145475
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